Phenotypes Associated with This Genotype

Genotype
MGI:2668968

• Allelic Composition: Foxj1^tm1Bph/Foxj1^tm1Bph
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:50025 )

• a significant portion of homozygotes die between E16.5 and E18.5

postnatal lethality, incomplete penetrance ( J:50025 )

• most homozygotes die during the first 4 days of life

• only 2.6% of homozygotes are obtained at 2-3 weeks of age

• rare male and female homozygotes survive beyond 12 weeks of age

growth/size/body

decreased birth body size ( J:50025 )

• newborn homozygotes are smaller in size than wild-type or heterozygous littermates

cachexia ( J:50025 )

• moribund homozygotes exhibit a wasted appearance

• however, no respiratory distress is observed

postnatal growth retardation ( J:50025 )

• rare postnatal survivors remain healthy but appear smaller than wild-type or heterozygous littermates

slow postnatal weight gain ( J:50025 )

• newborn homozygotes exhibit poor postnatal weight gain

decreased fetal weight ( J:50025 )

• by E16.5, homozygotes weigh significant less than wild-type controls

fetal growth retardation ( J:50025 )

heterotaxia ( J:50025 )

• at birth, a portion of homozygotes display heterotaxy with either reversal of the abdominal viscera and normal heart position or dextrocardia with normal positioning of the abdominal viscera

situs inversus totalis ( J:50025 )

• at birth, 48.1% of homozygotes show reversal of the abdominal viscera and dextrocardia consistent with random determination of left-right asymmetry

• no asplenia or polysplenia is observed

nervous system

absent brain ependyma motile cilia ( J:50025 )

• homozygotes exhibit complete absence of cilia in the chorid plexus

hydrocephaly ( J:50025 )

• at >1 wk of age, 3 of 6 homozygotes exhibit hydrocephalus, with one of them dying at 4 weeks

abnormal choroid plexus morphology ( J:50025 )

• homozygotes exhibit complete absence of cilia in the chorid plexus

embryo

abnormal left-right axis patterning ( J:50025 )

• at birth, 48.1% of homozygotes show reversal of the abdominal viscera and dextrocardia consistent with random determination of left-right asymmetry

behavior/neurological

decreased locomotor activity ( J:50025 )

• moribund homozygotes are less active than wild-type mice

reproductive system

absent oviduct epithelium motile cilium ( J:50025 )

♀ • homozygotes exhibit complete absence of cilia in the oviduct

absent sperm flagellum ( J:50025 )

♂ • mutant sperm lack flagella

infertility ( J:50025 )

• rare postnatal male and female survivors fail to reproduce

respiratory system

absent respiratory motile cilia ( J:50025 )

• homozygotes exhibit complete absence of cilia in the proximal respiratory epithelium

cardiovascular system

dextrocardia ( J:50025 )

• at birth, 48.1% of homozygotes show dextrcardia associated with reversal of the abdominal viscera

cellular

absent brain ependyma motile cilia ( J:50025 )

• homozygotes exhibit complete absence of cilia in the chorid plexus

absent oviduct epithelium motile cilium ( J:50025 )

♀ • homozygotes exhibit complete absence of cilia in the oviduct

absent respiratory motile cilia ( J:50025 )

• homozygotes exhibit complete absence of cilia in the proximal respiratory epithelium

absent sperm flagellum ( J:50025 )

♂ • mutant sperm lack flagella

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kartagener syndrome		DOID:0050144		J:50025
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:50025